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Disease relevance of Blindness


Psychiatry related information on Blindness


High impact information on Blindness

  • Mutations in Rpe65 disrupt synthesis of the opsin chromophore ligand 11-cis-retinal and cause Leber congenital amaurosis (LCA), a severe, early-onset retinal dystrophy [7].
  • Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis [7].
  • Mutations in RPE65 cause Leber's congenital amaurosis [8].
  • Leber's congenital amaurosis (LCA, MIM 204,000), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal dystrophies [9].
  • Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis [9].

Chemical compound and disease context of Blindness


Biological context of Blindness


Anatomical context of Blindness


Gene context of Blindness


Analytical, diagnostic and therapeutic context of Blindness


  1. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Delettre, C., Lenaers, G., Griffoin, J.M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc-Carel, C., Perret, E., Astarie-Dequeker, C., Lasquellec, L., Arnaud, B., Ducommun, B., Kaplan, J., Hamel, C.P. Nat. Genet. (2000) [Pubmed]
  2. Nifedipine in the treatment of migraine headache and amaurosis fugax in patients with systemic lupus erythematosus. Miller, F.W., Santoro, T.J. N. Engl. J. Med. (1984) [Pubmed]
  3. Frequency of major complications of aspirin, warfarin, and intravenous heparin for secondary stroke prevention. A population-based study. Petty, G.W., Brown, R.D., Whisnant, J.P., Sicks, J.D., O'Fallon, W.M., Wiebers, D.O. Ann. Intern. Med. (1999) [Pubmed]
  4. Biopsy-proven cerebral vasculitis associated with cocaine abuse. Krendel, D.A., Ditter, S.M., Frankel, M.R., Ross, W.K. Neurology (1990) [Pubmed]
  5. Model of complications of NIDDM. I. Model construction and assumptions. Eastman, R.C., Javitt, J.C., Herman, W.H., Dasbach, E.J., Zbrozek, A.S., Dong, F., Manninen, D., Garfield, S.A., Copley-Merriman, C., Maier, W., Eastman, J.F., Kotsanos, J., Cowie, C.C., Harris, M. Diabetes Care (1997) [Pubmed]
  6. The effects of typical retinitis pigmentosa, Leber's congenital amaurosis, centro-peripheral dystrophy, and Usher's syndrome on educational and vocational success and personality development. Coker Stogner, P. International journal of rehabilitation research. Internationale Zeitschrift für Rehabilitationsforschung. Revue internationale de recherches de réadaptation. (1980) [Pubmed]
  7. Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis. Woodruff, M.L., Wang, Z., Chung, H.Y., Redmond, T.M., Fain, G.L., Lem, J. Nat. Genet. (2003) [Pubmed]
  8. Mutations in RPE65 cause Leber's congenital amaurosis. Marlhens, F., Bareil, C., Griffoin, J.M., Zrenner, E., Amalric, P., Eliaou, C., Liu, S.Y., Harris, E., Redmond, T.M., Arnaud, B., Claustres, M., Hamel, C.P. Nat. Genet. (1997) [Pubmed]
  9. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Perrault, I., Rozet, J.M., Calvas, P., Gerber, S., Camuzat, A., Dollfus, H., Châtelin, S., Souied, E., Ghazi, I., Leowski, C., Bonnemaison, M., Le Paslier, D., Frézal, J., Dufier, J.L., Pittler, S., Munnich, A., Kaplan, J. Nat. Genet. (1996) [Pubmed]
  10. Transient amaurosis and headache after thyrotropin releasing hormone. Drury, P.L., Belchetz, P.E., McDonald, W.I., Thomas, D.G., Besser, G.M. Lancet (1982) [Pubmed]
  11. Retinal fluorescein angiographic evidence for atheromatous microembolism. Demonstration of ophthalmoscopically occult emboli and post-embolic endothelial damage after attacks of amaurosis fugax. Muci-Mendoza, R., Arruga, J., Edward, W.O., Hoyt, W.F. Stroke (1980) [Pubmed]
  12. Dietary treatment of atherosclerosis abolishes hyperresponsiveness of retinal blood vessels to serotonin in monkeys. Faraci, F.M., Armstrong, M.L., Heistad, D.D. Stroke (1991) [Pubmed]
  13. Cost-effectiveness of ticlopidine in preventing stroke in high-risk patients. Oster, G., Huse, D.M., Lacey, M.J., Epstein, A.M. Stroke (1994) [Pubmed]
  14. Ophthalmologic findings in 70 patients with evidence of retinal embolism. Arruga, J., Sanders, M.D. Ophthalmology (1982) [Pubmed]
  15. Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. Duda, T., Venkataraman, V., Goraczniak, R., Lange, C., Koch, K.W., Sharma, R.K. Biochemistry (1999) [Pubmed]
  16. Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. Keen, T.J., Mohamed, M.D., McKibbin, M., Rashid, Y., Jafri, H., Maumenee, I.H., Inglehearn, C.F. Eur. J. Hum. Genet. (2003) [Pubmed]
  17. Altered light responses of single rod photoreceptors in transgenic pigs expressing P347L or P347S rhodopsin. Kraft, T.W., Allen, D., Petters, R.M., Hao, Y., Peng, Y.W., Wong, F. Mol. Vis. (2005) [Pubmed]
  18. Retinal dystrophies caused by mutations in RPE65: assessment of visual functions. Hamel, C.P., Griffoin, J.M., Lasquellec, L., Bazalgette, C., Arnaud, B. The British journal of ophthalmology. (2001) [Pubmed]
  19. Amaurosis fugax and retinal vasculitis associated with methamphetamine inhalation. Shaw, H.E., Lawson, J.G., Stulting, R.D. Journal of clinical neuro-ophthalmology. (1985) [Pubmed]
  20. Hypothesis: vasoconstriction contributes to amaurosis fugax. Williams, J.K., Baumbach, G.L., Armstrong, M.L., Heistad, D.D. J. Cereb. Blood Flow Metab. (1989) [Pubmed]
  21. Features associated with epilepsy in the antiphospholipid syndrome. Shoenfeld, Y., Lev, S., Blatt, I., Blank, M., Font, J., von Landenberg, P., Lev, N., Zaech, J., Cervera, R., Piette, J.C., Khamashta, M.A., Bertolaccini, M.L., Hughes, G.R., Youinou, P., Meroni, P.L., Pengo, V., Alves, J.D., Tincani, A., Szegedi, G., Lakos, G., Sturfelt, G., Jönsen, A., Koike, T., Sanmarco, M., Ruffatti, A., Ulcova-Gallova, Z., Praprotnik, S., Rozman, B., Lorber, M., Chapman, J., van-Breda-Vriezman, P.J., Damoiseaux, J. J. Rheumatol. (2004) [Pubmed]
  22. Evidence for orbital deformation that may contribute to monocular blindness following minor frontal head trauma. Gross, C.E., DeKock, J.R., Panje, W.R., Hershkowitz, N., Newman, J. J. Neurosurg. (1981) [Pubmed]
  23. Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). Ellis, D.S., Heckenlively, J.R., Martin, C.L., Lachman, R.S., Sakati, N.A., Rimoin, D.L. Am. J. Ophthalmol. (1984) [Pubmed]
  24. Light-induced amaurosis fugax. Kaiboriboon, K., Piriyawat, P., Selhorst, J.B. Am. J. Ophthalmol. (2001) [Pubmed]
  25. Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis. Lu, X., Guruju, M., Oswald, J., Ferreira, P.A. Hum. Mol. Genet. (2005) [Pubmed]
  26. Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure. van de Pavert, S.A., Kantardzhieva, A., Malysheva, A., Meuleman, J., Versteeg, I., Levelt, C., Klooster, J., Geiger, S., Seeliger, M.W., Rashbass, P., Le Bivic, A., Wijnholds, J. J. Cell. Sci. (2004) [Pubmed]
  27. Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids. Belyaeva, O.V., Korkina, O.V., Stetsenko, A.V., Kim, T., Nelson, P.S., Kedishvili, N.Y. Biochemistry (2005) [Pubmed]
  28. AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. Ramamurthy, V., Roberts, M., van den Akker, F., Niemi, G., Reh, T.A., Hurley, J.B. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  29. Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. Ramamurthy, V., Niemi, G.A., Reh, T.A., Hurley, J.B. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  30. Vision disturbances after operative hysteroscopy. Motashaw, N.D., Dave, S. The Journal of the American Association of Gynecologic Laparoscopists. (1999) [Pubmed]
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